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Table 1 Summary of genotypes and phenotypes

From: Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

Family number

APC gene mutation

Consequence

Type colonic polyposis (A, P, C)

Colonic adenoma age

Duodenal adenoma age

Gastric adenoma age

Other tumor type and location, Age

Family origin

A43/M

c.824delA

p.N276fs

C

32

-

-

adenoma, ureter/32

Sweden

A8/F

c.1120G>T

p.S373X

C

14

31

32

-

Sweden

A19/M

c.1409-1G>A

intron 10 splice site

C

28

31

32

-

Sweden

A46-1/F

c.1582_1583insGC

p.A529fs

C

13

27

27

papillary cancer, thyroid/19

Sweden

A46-2/F

c.1582_1583insGC

p.A529fs

C

18

38

40

papillary cancer, thyroid/28

Sweden

A29/M

c.1690C>T

p.R564X

C

42

-

-

-

Sweden

A34/F

c.1958G>T

exon 15 splice site

P

44

44

-

colon cancer/45

Gambia

A26/F

c.3921_3925delAAAAC

p.I1307fs

C

22

40

47

-

Sweden

A37/M

del exon 1–15

c.1-?_8532+?del

C

22

24

26

-

Sweden

A40/M

del exon 1–15

c.1-?_8532+?del

C

42

48

-

adenomyoma, gall bladder/44

Macedonia

A47/M

c.4348C>T

p.R1450X

C

20

-

-

desmoid tumor, retroperitoneum/20

Iceland

A30/F

c.5030_5031insAA

p.G1784fs

A

72

73

73

osteoma/NA three synchronous colon cancers/72

Sweden

       

desmoid tumor, abdominal wall/73

 
       

osteoma/73 adenocarcinoma, small intestine/74

 
  1. A: attenuated FAP, P: profuse FAP, C: classical FAP
  2. NA: not available
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BMC Medical Genetics

ISSN: 1471-2350

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